UDP-glucuronosyltransferase Deficiency:This condition involves reduced activity of a liver enzyme crucial for processing bilirubin, a byproduct of normal red blood cell breakdown. When this enzyme is deficient, it leads to a condition known as Gilbert's syndrome, which causes a mild increase in bilirubin levels in the bloodstream. Occasionally, this elevated bilirubin can result in slight yellowing of the eyes. Despite this, individuals with Gilbert's syndrome are otherwise completely healthy, exhibiting no other symptoms, and their liver enzyme levels in blood tests remain normal. No treatment is necessary for Gilbert's syndrome, and the prognosis is excellent. The gene responsible for producing UDP-glucuronosyltransferase is located on chromosome 2, a non-sex chromosome. Possessing just one copy of the Gilbert variant of this gene can lead to the development of Gilbert's syndrome, making it an autosomal dominant condition. If a person has Gilbert's syndrome, there is a 50% chance they will pass the Gilbert gene to each of their children, who will also manifest the condition.Gilbert's syndrome is commonly observed among individuals in the U.S. and Europe and is typically identified during routine blood tests. This enzyme irregularity has no adverse health effects.
